Search results for " polymorphism"

Sequence characterization of the melanocortin 1 receptor (MC1R) gene in sheep with different coat colour and identification of the putative e allele …

2010

Abstract Sequence of the melanocortin 1 receptor (MC1R) gene (the Extension locus) was obtained from a panel of 73 animals belonging to 9 Italian sheep breeds or populations (Appenninica, Bergamasca, Comisana, Cornigliese-like, Delle Langhe, Massese, Merinizzata Italiana, Sarda and Valle del Belice) with different coat colours. Evaluation of the identified polymorphisms on this phenotype was reported with in silico predictions and comparative approaches within and across breeds and across species. Five novel single nucleotide polymorphisms (SNPs), organized in three haplotypes, were detected. Another haplotype, including the two missense mutations already described for the ED allele, was id…

Molecular Genetic Investigations in Autosomal Dominant Polycystic Kidney Disease. Gene Mutation Detection, Linkage Analysis, and Preliminary ACE Gene…

1997

Interleukin-10 promoter polymorphism in sporadic Alzheimer's disease.

2003

Proinflammatory cytokines and acute-phase proteins play an important role in Alzheimer's disease (AD) neurodegeneration, and common polymorphisms of genes controlling their high production have been shown to be associated with AD. Thus, AD patients display a proinflammatory genotype and the control of inflammation might play a protective role in AD development. By sequence-specific probes, we have evaluated the role of anti-inflammatory cytokine interleukin(IL)-10 in AD, by analysing in 132 AD patients and 213 healthy controls the prevalence of three different haplotypes, involving three single-nucleotide polymorphisms (SNPs) at -1082 (G--A), -819 (C--T) and -592 (C--A) nucleotides of IL-10…

Patterns of puffing activity and chromosomal polymorphism in Drosophila subobscura I. J. and U chromosomes

1982

A study of the puffing patterns of the Jst, J1, U1−2, U1−2−8 and Ust chromosomal arrangements of Drosophila subobscura, from different geographical origins, has been carried out. Twenty-eight puffs were observed, 10 on the J chromosome, and 18 on the U chromosome. No differences, whether qualitative or quantitative, have been found between the puffing pattern of the J chromosome, whether from the same of different geographical background. In the U chromosome, the U1−2 and U1+2+8 arrangements show the same puffing pattern, and neither quantitative nor qualitative differences were found. However, the puffing pattern of these chromosomes alters considerably in the Ust arrangement of the K228 l…

Dissemination of wine-related yeasts by migratory birds

2011

Summary The present work was undertaken to evaluate the contribution of migratory birds in the environmental dissemination of yeasts. Four sites (Mazara del Vallo, Lampedusa, Ustica and Linosa), representing the main stop-over points in Sicily, were analysed during spring and autumnal bird migration and 349 birds (belonging to 10 families) were ringed and analysed for yeast presence. A total of 125 yeasts were isolated and identified by a multiple genotypic approach, consisting of restriction fragment length polymorphism (RFLP) of 5.8S rRNA gene and 26S rRNA and sequencing of D1/D2 domain of the 26S rRNA gene, which resulted in the recognition of 18 species, including the technological rele…

Molecular markers for systematic identification and population genetics of the invasive Ponto-Caspian freshwater gammarid Dikerogammarus villosus (Cr…

2006

The Ponto-Caspian amphipod, Dikerogammarus villosus, is an invasive species of many European rivers. First, we show that size difference of nrDNA ITS1 allows discriminating D. villosus from Dikerogammarus bispinosus, a closely related but morphologically hardly distinguishable species. Second, we present two types of polymorphic markers for D. villosus, three microsatellites and two single nucleotide polymorphisms (SNPs) of mtDNA COI gene, which were scored by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP). These markers will be very useful in studying population genetics of D. villosus.

Congruence in genetic markers used to describe Mediterranean and Atlantic populations of European hake (Merluccius merluccius L. 1758)

2004

Summary Eight samples of the hake, Merluccius merluccius L., from the Mediterranean basin (370 fishes total) and one from the Atlantic ocean (50 fishes) were analysed in order to assess genetic variability and describe genetic population structure. Five polymorphic protein coding loci were scored (ADH*, PGI-1*, PGI-2*, PGM* and SOD-1*) in eight samples, together with a haplotype variation of four samples, obtained from polymerase chain reaction/restriction fragment length polymorphism (PCR–RFLP) analysis on the mitochondrial DNA control region. The average value for observed heterozygosity was typically higher than expected (showing an excess of heterozygotes among the samples) whereas the …

Molecular characterization of Colletotrichum strains derived from strawberry

1999

Strains of Colletotrichum species derived from diseased strawberry plants from a wide geographical range were studied using mitochondrial and ribosomal DNA RFLPs, and acetyl and propionyl esterase isoenzymes. Two major species aggregates were detected, centred on C. acutatum and C. gloeosporioides respectively, with significant further subdivision. There were apparent discrepancies in the hierarchical nesting of some taxon groups based on the different molecular techniques. Strains assigned to C. acutatum fell into several rDNA RFLP groups, but there was less variation in mtDNA RFLP band patterns. There appears to be at least one probably clonal population in the U.S.A. which is also presen…

Lack of seasonal changes in mitochondrial DNA variability of a Drosophila subobscura population

1994

Restriction site analysis of mtDNA of 550 isofemale lines corresponding to different seasonal samples of a single geographic population of Drosophila subobscura was carried out. The distribution pattern of haplotypes was similar to that observed for the entire range of the species on the European continent: two haplotypes were equally and highly frequent, and a set of sporadic haplotypes were almost never present in more than one seasonal sampling. No statistically significant evidence was found for between-population heterogeneity across time, and the mean within-population variation was similar to other mtDNA restriction site analyses previously reported for D. subobscura populations. The…

Genome-wide significant association with seven novel multiple sclerosis risk loci

2015

Objective A recent large-scale study in multiple sclerosis (MS) using the ImmunoChip platform reported on 11 loci that showed suggestive genetic association with MS. Additional data in sufficiently sized and independent data sets are needed to assess whether these loci represent genuine MS risk factors. Methods The lead SNPs of all 11 loci were genotyped in 10 796 MS cases and 10 793 controls from Germany, Spain, France, the Netherlands, Austria and Russia, that were independent from the previously reported cohorts. Association analyses were performed using logistic regression based on an additive model. Summary effect size estimates were calculated using fixed-effect meta-analysis. Results…